1 in 4 Ashkenazi Jews carries a genetic disorder
that may threaten infant health.

  • Complete: Screens for 20 Jewish Genetic Diseases; meets ACOG and ACMG guidelines
  • Flexible: Blood, mouthwash or buccal swab specimens accepted
  • Affordable: With patient-friendly billing and our Peace of Mind program

About Jewish Genetic Diseases

Some genetic disorders are more prevalent in the Jewish population originating from Eastern and Central Europe. This group is known as Ashkenazi and it represents the vast majority of Jewish individuals in North America. Diseases that are more common among Ashkenazi Jews are referred to as Jewish Genetic Diseases. Most of these diseases are severe and associated with a shortened life expectancy.

One in four Ashkenazi Jews is a carrier of a genetic disorder that may threaten infant health. Patients who have at least one Ashkenazi Jewish grandparent are considered at risk.

Jewish Genetic Diseases are autosomal recessive disorders. When both parents are carriers of the same disorder, there is a 1 in 4, or 25%, chance with each pregnancy that they will have an affected child.

Carrier Frequency, Detection Rates, and Residual Risk

Table: AJPnxt: Jewish Carrier Screening: Carrier Frequency, Detection Rates, and Residual Risk

Screening Guidelines

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend the following conditions be offered for carrier screening:1, 2 Table: AJPnxt: Jewish Carrier Screening: Screening Guidelines  
Hexosaminidase A testing cannot be performed on mouthwash and buccal swab samples.